Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ernesto Goldschmidt"'
Autor:
Paula I. Buonfiglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, Florencia Giliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, Ernesto Goldschmidt, Ana Belén Elgoyhen, Viviana Dalamón
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Abstract Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafne
Externí odkaz:
https://doaj.org/article/566dfa2b97ec4284a3729f4ceba24c83
Autor:
Paula I. Buonfiglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, Florencia Giliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, Ernesto Goldschmidt, Ana Belén Elgoyhen, Viviana Dalamón
Publikováno v:
Scientific Reports
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Scientific Reports, Vol 12, Iss 1, Pp 1-14 (2022)
Hearing loss is a heterogeneous disorder. Identification of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound deafness. After
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::025dabee8399dca159205f7b624aedb8
https://pubmed.ncbi.nlm.nih.gov/34997062
https://pubmed.ncbi.nlm.nih.gov/34997062
Autor:
José Marmo Lupano, Juan J Bosch, Carolina José, Guillermo Artero, Agustín Bernatzky, Juan P Berazategui, Sandra B Díaz, Leticia Negrin, María S Medina, Ernesto Goldschmidt
Publikováno v:
Archivos Argentinos de Pediatria. 119
If newborns have an airway obstruction, they require urgent and expert management to avoid mortality and morbidity. The definition of difficult airway includes problems in endotracheal intubation or positive pressure ventilation with bag and mask or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e6894f862dfef099445f299fa3b6343
https://doi.org/10.5546/aap.2021.e45
https://doi.org/10.5546/aap.2021.e45
Autor:
Ernesto, Goldschmidt, Marisa, Márquez, Andrea, Solari, María I, Ziembar, Alejandro, Laudicina
Publikováno v:
Archivos argentinos de pediatria. 108(4)
The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed during adulthood when they develop premature ovarian failure or infertili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5f5b0e25bc2fcc62b9afdd5a9ea076c
https://pubmed.ncbi.nlm.nih.gov/20672182
https://pubmed.ncbi.nlm.nih.gov/20672182
Publikováno v:
Archivos argentinos de pediatria. 106(2)
Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral abnormalities associated with molecular anomaly in 17p11.2. Treatment includes: early child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::39e315854703aab7db7d01afa1bbc5d6
https://pubmed.ncbi.nlm.nih.gov/18661040
https://pubmed.ncbi.nlm.nih.gov/18661040
Autor:
Irene Szijan, Veronica Ferreiro, Daniel Borelina, Nora Engel, Ernesto Goldschmidt, Maria Torrado, Marcela Maria Ferrer, Liliana Francipane, Sebastian Esperante
Publikováno v:
Journal of biochemistry and molecular biology. 37(5)
Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS) or maternal (AS) 15q11-q13 chromosome. Diagnosis on a clinical basis is difficult in newbo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6accb7a560abe4ee660293db7ff68286
https://pubmed.ncbi.nlm.nih.gov/15479613
https://pubmed.ncbi.nlm.nih.gov/15479613
Publikováno v:
Revista de Neurología. 52:189
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::37254376517f25fc32c255c4d6b9b53c
https://doi.org/10.33588/rn.5203.2010599
https://doi.org/10.33588/rn.5203.2010599